Incidental Mutation 'R5883:Cd84'
| ID |
454498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd84
|
| Ensembl Gene |
ENSMUSG00000038147 |
| Gene Name |
CD84 antigen |
| Synonyms |
SLAMF5, CDw84, A130013D22Rik |
| MMRRC Submission |
044086-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5883 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171667265-171718285 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171700405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042302]
[ENSMUST00000136479]
[ENSMUST00000155802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042302
AA Change: V174A
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047024
Gene: ENSMUSG00000038147
AA Change: V174A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
26 |
126 |
3.16e-1 |
SMART |
|
IG_like
|
137 |
208 |
1.02e1 |
SMART |
|
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128189
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136479
AA Change: V174A
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122951
Gene: ENSMUSG00000038147
AA Change: V174A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
26 |
126 |
3.16e-1 |
SMART |
|
IG_like
|
137 |
208 |
1.02e1 |
SMART |
|
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155802
AA Change: V174A
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120881
Gene: ENSMUSG00000038147
AA Change: V174A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
26 |
126 |
3.16e-1 |
SMART |
|
IG_like
|
137 |
208 |
1.02e1 |
SMART |
|
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2176 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.9%
- 20x: 83.7%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele of this gene show defects in T follicular helper function and germinal center formation. Mice homozygous for a different knock-out allele display normal platelet physiology and thrombus formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
A |
8: 120,872,380 (GRCm39) |
V103I |
possibly damaging |
Het |
| Aass |
G |
A |
6: 23,072,993 (GRCm39) |
T920I |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,565,256 (GRCm39) |
I168V |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,615,688 (GRCm39) |
Y372* |
probably null |
Het |
| Ano3 |
T |
A |
2: 110,711,209 (GRCm39) |
E85V |
probably null |
Het |
| Bmf |
C |
T |
2: 118,377,447 (GRCm39) |
|
silent |
Het |
| Bmper |
T |
A |
9: 23,317,970 (GRCm39) |
S530T |
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,339,049 (GRCm39) |
D383G |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,440,363 (GRCm39) |
Y156N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,595,896 (GRCm39) |
V1987A |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,359,261 (GRCm39) |
L997Q |
probably benign |
Het |
| Chil4 |
C |
T |
3: 106,117,886 (GRCm39) |
R128H |
possibly damaging |
Het |
| Cpne3 |
A |
T |
4: 19,552,314 (GRCm39) |
V106D |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,879 (GRCm39) |
E425G |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,824,008 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,369,711 (GRCm39) |
H4379N |
probably damaging |
Het |
| Gm10309 |
A |
G |
17: 86,806,185 (GRCm39) |
|
probably benign |
Het |
| Gm6264 |
G |
A |
1: 85,148,903 (GRCm39) |
|
probably benign |
Het |
| Has2 |
T |
A |
15: 56,531,459 (GRCm39) |
I419F |
possibly damaging |
Het |
| Hscb |
A |
G |
5: 110,987,444 (GRCm39) |
C51R |
probably benign |
Het |
| Ighv1-61 |
T |
C |
12: 115,323,183 (GRCm39) |
S4G |
probably benign |
Het |
| Islr2 |
G |
T |
9: 58,105,998 (GRCm39) |
Q465K |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,715,059 (GRCm39) |
I156V |
possibly damaging |
Het |
| Klk1b24 |
A |
G |
7: 43,839,787 (GRCm39) |
I49V |
probably benign |
Het |
| Krt90 |
C |
T |
15: 101,461,654 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
C |
T |
11: 57,933,125 (GRCm39) |
S243F |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,318,778 (GRCm39) |
Y872H |
probably benign |
Het |
| Maip1 |
T |
C |
1: 57,446,260 (GRCm39) |
M110T |
probably damaging |
Het |
| Marchf7 |
G |
A |
2: 60,064,786 (GRCm39) |
R354Q |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,998,889 (GRCm39) |
E605D |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,110,049 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
T |
A |
7: 139,980,101 (GRCm39) |
Y286F |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,078 (GRCm39) |
C168S |
probably damaging |
Het |
| Or5p66 |
C |
T |
7: 107,885,451 (GRCm39) |
S294N |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,267,776 (GRCm39) |
E13V |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,635,535 (GRCm39) |
A1100T |
possibly damaging |
Het |
| Prkdc |
C |
A |
16: 15,533,778 (GRCm39) |
Q1539K |
probably benign |
Het |
| Rad54l |
C |
G |
4: 115,956,243 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,573,389 (GRCm39) |
I943N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,995,651 (GRCm39) |
|
probably null |
Het |
| Rpl12 |
T |
C |
2: 32,852,536 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,637 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
C |
A |
5: 125,417,971 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
C |
15: 79,040,463 (GRCm39) |
E359G |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,056,228 (GRCm39) |
T9A |
unknown |
Het |
| Tmem128 |
C |
T |
5: 38,423,885 (GRCm39) |
A33V |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,444 (GRCm39) |
V453G |
probably benign |
Het |
| Ubxn4 |
T |
A |
1: 128,183,867 (GRCm39) |
C76S |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,743,786 (GRCm39) |
Y483F |
probably benign |
Het |
| Xkr5 |
A |
G |
8: 18,990,806 (GRCm39) |
S154P |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
|
| Other mutations in Cd84 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Cd84
|
APN |
1 |
171,679,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01371:Cd84
|
APN |
1 |
171,713,937 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03035:Cd84
|
APN |
1 |
171,679,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03098:Cd84
|
APN |
1 |
171,700,267 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0511:Cd84
|
UTSW |
1 |
171,700,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1244:Cd84
|
UTSW |
1 |
171,679,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1438:Cd84
|
UTSW |
1 |
171,679,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Cd84
|
UTSW |
1 |
171,679,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1654:Cd84
|
UTSW |
1 |
171,712,173 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1658:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1659:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1765:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1771:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1776:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1799:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1815:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1816:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1982:Cd84
|
UTSW |
1 |
171,712,152 (GRCm39) |
splice site |
probably null |
|
|
R1990:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2056:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2057:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2058:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2098:Cd84
|
UTSW |
1 |
171,713,148 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4674:Cd84
|
UTSW |
1 |
171,700,887 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4675:Cd84
|
UTSW |
1 |
171,700,887 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4806:Cd84
|
UTSW |
1 |
171,679,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4828:Cd84
|
UTSW |
1 |
171,700,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4908:Cd84
|
UTSW |
1 |
171,700,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5366:Cd84
|
UTSW |
1 |
171,700,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Cd84
|
UTSW |
1 |
171,700,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6722:Cd84
|
UTSW |
1 |
171,700,344 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6966:Cd84
|
UTSW |
1 |
171,713,976 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7513:Cd84
|
UTSW |
1 |
171,712,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7733:Cd84
|
UTSW |
1 |
171,668,226 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9123:Cd84
|
UTSW |
1 |
171,712,153 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9134:Cd84
|
UTSW |
1 |
171,679,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9441:Cd84
|
UTSW |
1 |
171,713,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9702:Cd84
|
UTSW |
1 |
171,700,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAGCTCACTGTAGGCTC -3'
(R):5'- CTCACTTTAAAGGAGGCACATAC -3'
Sequencing Primer
(F):5'- CAGCTCACTGTAGGCTCATATG -3'
(R):5'- TGTGAAGATTAGCCAGAGGTTAAGCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation